Canonical Allele Identifier: CA212542
Gene: ZIC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 190129
dbSNP Id: rs147232392

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137566740G>T , CM000685.2:g.137566740G>T GRCh38
NC_000023.10:g.136648899G>T , CM000685.1:g.136648899G>T GRCh37
NC_000023.9:g.136476565G>T NCBI36
NG_008115.1:g.5554G>T
NG_008115.2:g.5614G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287538.10:c.49G>T MANE Select ENSP00000287538.5:p.Gly17Cys
ENST00000287538.9:c.49G>T ENSP00000287538.5:p.Gly17Cys
ENST00000370606.3:c.49G>T ENSP00000359638.3:p.Gly17Cys
NM_003413.3:c.49G>T NP_003404.1:p.Gly17Cys
NM_001330661.1:c.49G>T NP_001317590.1:p.Gly17Cys
NM_003413.4:c.49G>T MANE Select NP_003404.1:p.Gly17Cys